SEA: Practical Application of Science (Dec 2022)
GENETIC CLUES IN CONGENITAL HEART DISEASES
Abstract
The frequency of genetic diseases is estimated at approximately 1 in 40 live newborns, including both minor and major disorders. The medico-psycho-social impact of diseases with genetic determinism is important. Although taken individually, genetic diseases are considered rare, cumulatively, they represent such a frequent pathology, that one can rightfully consider genetic anomalies the basis of the majority of currently diagnosable and treatable conditions. This is the hypothesis that underlies the orientation of contemporary medicine towards individualized therapy. Congenital heart malformations associate a high morbidity and mortality potential even as an isolated disease, even more so if they appear in the context of a genetic syndrome. For these reasons, it is particularly important for today's practitioner to know the small clues that should raise a reasonable suspicion for the presence of a genetic syndrome in a patient diagnosed with a congenital heart disease. Dysmorphology is the youngest genetic branch, studying the structural anomalies commonly reffered to as birth defects. It has proven to be an important tool for the modern practitioner when dealing with complex congenital anomalies.
